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Research article

First published 2014-1

FAM20A Mutations Associated with Enamel Renal Syndrome

S.K. Wang, B.M. Reid, S.L. Dugan [...]

Journal of Dental Research

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Review article

First published 1998-1

Metabolic and Molecular Bases of Menkes Disease and Occipital Horn Syndrome

Stephen G. Kaler

Pediatric and Developmental Pathology

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Research article

First published 2009-10

Identification of a Novel Pathogenic Mutation in BRCA2 in a Spanish Breast-Ovarian Cancer Family

Asuncion Torres, Josep Gumà, Marta Rodríguez [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2002-12

Mutation Testing in Treacher Collins Syndrome

P. E. Ellis, M. Dawson, M. J. Dixon

Journal of Orthodontics

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Brief report

First published 2001-03

Sensitivity and Specificity of Denaturing High-Pressure Liquid Chromatography for Unknown Protein C Gene Mutations

Maria Rita Taliani, Stacy C. Roberts, Brian A. Dukek [...]

Genetic Testing and Molecular Biomarkers

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Research article

First published 2015-5

Mutational Analyses of the FMR1 Gene in Chinese Pediatric Population of Fragile X Suspects

Shiyu Luo, Wen Huang, Qiuping Xia [...]

Journal of Child Neurology

Free access

Research article

First published 2013-1

Inactivating Mutations in GT198 in Familial and Early-Onset Breast and Ovarian Cancers

Min Peng, Janine L. Bakker, Richard A. DiCioccio [...]

Genes & Cancer

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Research article

First published 2004-06

Mutation Analysis of hMSH2 and hMLH1 in Colorectal Cancer Patients in India

Thangarajan Rajkumar, Nagasamy Soumittra, Durgatosh Pandey [...]

Genetic Testing and Molecular Biomarkers

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Case report

First published 2014-9

Homozygous c.1937+1G>A Splice-Site Variant of the ABCA4 gene is Associated with Stargardt Disease

Chiara M. Eandi, Federico M. Grignolo, Ilaria Passerini [...]

European Journal of Ophthalmology

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Research article

First published 2010-06

Mutation Analysis of the HBB Gene in Selected Bangladeshi β-Thalassemic Individuals: Presence of Rare Mutations

Mustak Ibn Ayub, Mahdi Muhammad Moosa, Golam Sarwardi [...]

Genetic Testing and Molecular Biomarkers

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